A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6526930



Internal ID20900291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67351208..67381144hg38UCSC Ensembl
chr17:65347324..65377260hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3829937
hg1929937
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181918
Samples
Known GenesPITPNC1, PSMD12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6526930
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer